Yu D T, Sheth K J
Clin Pediatr (Phila). 1985 Jan;24(1):36-9. doi: 10.1177/000992288502400108.
We describe two cases of unusual presentation of tuberous sclerosis with cystic renal involvement. A 19-month-old white male who was initially misdiagnosed as having polycystic kidney disease of "adult-type" developed petit mal seizures and small "ash-leaf" depigmented areas, raising a suspicion of tuberous sclerosis. Computerized tomography (CT) of the brain revealed periventricular calcifications, confirming the diagnosis of tuberous sclerosis. A 15 3/4-year-old black female with tuberous sclerosis showed acceleration of renal failure. Computerized tomography scan of the abdomen showed cystic lesions of the kidneys. In young children with cystic renal involvement but a negative family history of tuberous sclerosis or polycystic kidney disease, a CT scan of the brain should assist in the diagnosis. A CT scan or ultrasound examination of the abdomen will differentiate cystic renal lesions from angiomyolipoma of the kidneys.
我们描述了两例结节性硬化症伴肾囊肿受累的不寻常表现病例。一名19个月大的白人男性最初被误诊为患有“成人型”多囊肾病，后来出现失神发作和小的“树叶状”色素脱失斑，这引发了对结节性硬化症的怀疑。脑部计算机断层扫描（CT）显示脑室周围钙化，从而确诊为结节性硬化症。一名15又3/4岁的黑人女性患有结节性硬化症，其肾衰竭加速。腹部计算机断层扫描显示肾脏有囊性病变。对于有肾囊肿受累但结节性硬化症或多囊肾病家族史为阴性的幼儿，脑部CT扫描有助于诊断。腹部CT扫描或超声检查将有助于区分肾囊性病变和肾血管平滑肌脂肪瘤。
